Pubblicazioni

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

2022 - HUMAN MOLECULAR GENETICS

Motta, Marialetizia; Solman, Maja; Alice Bonnard, Adeline; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, HÃ¼lya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne; Thomas-Teinturier, CÃ©cile; Guimier MD15, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; CavÃ©, HÃ©lÃ¨ne; den Hertog, Jeroen; Tartaglia., Marco

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species

2022 - HUMAN MOLECULAR GENETICS

Carpentieri, G.; Leoni, C.; Pietraforte, D.; Cecchetti, S.; Iorio, E.; Belardo, A.; Pietrucci, D.; Di Nottia, M.; Pajalunga, D.; Megiorni, F.; Mercurio, L.; Tatti, M.; Camero, S.; Marchese, C.; Rizza, T.; Tirelli, V.; Onesimo, R.; Carrozzo, R.; Rinalducci, S.; Chillemi, G.; Zampino, G.; Tartaglia, M.; Flex, E.

Hsa-miR223-3p circulating level is upregulated in Friedreich???s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1

2022 - HUMAN MOLECULAR GENETICS

Quatrana, Andrea; Morini, Elena; Tiano, Francesca; Vancheri, Chiara; Panarello, Luca; Romano, Silvia; Marcotulli, Christian; Casali, Carlo; Mariotti, Caterina; Mongelli, Alessia; Fichera, Mario; Rufini, Alessandra; Cond??, Ivano; Novelli, Giuseppe; Testi, Roberto; Amati, Francesca; Malisan, Florence

Disclosing complex mutational dynamics at a Y chromosome palindrome evolving through intra- and inter-chromosomal gene conversion

2022 - HUMAN MOLECULAR GENETICS

Bonito, Maria; Ravasini, Francesco; Novelletto, Andrea; D'Atanasio, Eugenia; Cruciani, Fulvio; Trombetta, Beniamino

RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis

2022 - HUMAN MOLECULAR GENETICS

Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioc, Pompeo

New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion

2021 - HUMAN MOLECULAR GENETICS

Bonito, Maria; DâAtanasio, Eugenia; Ravasini, Francesco; Cariati, Selene; Finocchio, Andrea; Novelletto, Andrea; Trombetta, Beniamino; Cruciani, Fulvio

Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors

2021 - HUMAN MOLECULAR GENETICS

Cheung, Mitchell; Kadariya, Yuwaraj; Sementino, Eleonora; Hall, Michael J; Cozzi, Ilaria; Ascoli, Valeria; Ohar, Jill A; Testa, Joseph R

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis

2020 - HUMAN MOLECULAR GENETICS

Micale, L.; Cialfi, S.; Fusco, C.; Cinque, L.; Castellana, S.; Biagini, T.; Talora, C.; Notarangelo, A.; Bisceglia, L.; Taruscio, D.; Salvatore, M.; Castori, M.

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants

2019 - HUMAN MOLECULAR GENETICS

Fusco, C; NARDELLA, GRAZIA; Fischetto, R; Copetti, M; Petracca, A; Annunziata, F; Augello, B; D'Asdia, MC; Petrucci, S; Mattina, T; Rella, A; Cassina, M; Bengala, M; Biagini, T; Causio, FA; Caldarini, C; Brancati, F; De Luca, A; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.

The pathogenesis of lysosomal storage disorders. Beyond the engorgement of lysosomes to abnormal development and neuroinflammation

2018 - HUMAN MOLECULAR GENETICS

Fiorenza, Maria Teresa; Moro, Enrico; Erickson, Robert P.

Stimulation of S1PR5 with A-971432, a selective agonist, preserves blood-brain barrier integrity and exerts therapeutic effect in an animal model of Huntington's disease

2018 - HUMAN MOLECULAR GENETICS

Di Pardo, Alba; Castaldo, Salvatore; Amico, Enrico; Pepe, Giuseppe; Marracino, Federico; Capocci, Luca; Giovannelli, Alfredo; Madonna, Michele; van Bergeijk, Jeroen; Buttari, Fabio; van der Kam, Elizabeth; Maglione, Vittorio

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease

2017 - HUMAN MOLECULAR GENETICS

Canterini, Sonia; Dragotto, Jessica; Dardis, Andrea; Zampieri, Stefania; DE STEFANO, Maria Egle; Mangia, Franco; Erickson, Robert P.; Fiorenza, Maria Teresa

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway

2017 - HUMAN MOLECULAR GENETICS

Petrillo, Sara; Pelosi, Laura; Piemonte, Fiorella; Travaglini, Lorena; Forcina, Laura; Catteruccia, Michela; Petrini, Stefania; Verardo, Margherita; D'Amico, Adele; Musaro', Antonio; Bertini, Enrico

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH:ubiquinone oxidoreductase Ndufc2 subunit

2017 - HUMAN MOLECULAR GENETICS

Raffa, Salvatore; Scrofani, Cristina; Valente, Sabatino; Micaloni, Andrea; Maurizio, Forte; Bianchi, Franca; Coluccia, Roberta; Geurts, Aron M; Sciarretta, Sebastiano; Volpe, Massimo; Torrisi, Maria Rosaria; Rubattu, Speranza Donatella

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

2017 - HUMAN MOLECULAR GENETICS

Palencia-Campos, A.; Ullah, A.; Nevado, J.; Yildirim, R.; Unal, E.; Ciorraga, M.; Barruz, P.; Chico, L.; Piceci-Sparascio, F.; Guida, V.; De Luca, A.; Kayserili, H.; Ullah, I.; Burmeister, M.; Lapunzina, P.; Ahmad, W.; Morales, A. V.; Ruiz-Perez, V. L.

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

2016 - HUMAN MOLECULAR GENETICS

Perli, Elena; Fiorillo, Annarita; Giordano, Carla; Pisano, Annalinda; Montanari, Arianna; Grazioli, Paola; Campese, Antonio Francesco; Di Micco, Patrizio; Tuppen, Helen A; Genovese, Ilaria; Poser, Elena; Preziuso, Carmela; Taylor, Robert W; Morea, Veronica; Colotti, Gianni; D'Amati, Giulia

A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.

2016 - HUMAN MOLECULAR GENETICS

Baroncelli, L; Molinaro, A; Cacciante, F; AlessandrÃ¬, Mg; Napoli, D; Putignano, E; Tola, J; Leuzzi, Vincenzo; Cioni, G; Pizzorusso, T.

BCM-95 and 2-hydroxypropyl b-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap-C deficient fibroblasts.

2015 - HUMAN MOLECULAR GENETICS

M., Tatti; M., Motta; Scarpa, Susanna; S., Di Bartolomeo; V., Cianfranelli; M., Tartaglia; R., Salvioli

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice

2015 - HUMAN MOLECULAR GENETICS

Pelosi, Laura; Berardinelli, Maria Grazia; Forcina, Laura; Spelta, Elisa; Rizzuto, Emanuele; Nicoletti, Carmine; Camilli, Carlotta; Testa, Erika; Catizone, Angela; De Benedetti, Fabrizio; MusarÃ², Antonio

Targeting estrogen receptor Î² as preventive therapeutic strategy for Leber's hereditary optic neuropathy

2015 - HUMAN MOLECULAR GENETICS

Pisano, Annalinda; Preziuso, Carmela; Iommarini, Luisa; Perli, Elena; Grazioli, Paola; Campese, Antonio Francesco; Maresca, Alessandra; Montopoli, Monica; Masuelli, Laura; Sadun, Alfredo A; D'Amati, Giulia; Carelli, Valerio; Ghelli, Anna; Giordano, Carla

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

2015 - HUMAN MOLECULAR GENETICS

Peterlongo, Paolo; Catucci, Irene; Colombo, Mara; Caleca, Laura; Mucaki, Eliseos; Bogliolo, Massimo; Marin, Maria; Damiola, Francesca; Bernard, Loris; Pensotti, Valeria; Volorio, Sara; Dall'Olio, Valentina; Meindl, Alfons; Bartram, Claus; Sutter, Christian; Surowy, Harald; Sornin, ValÃ©rie; Dondon, Marie Gabrielle; Eon Marchais, SÃ©verine; Stoppa Lyonnet, Dominique; Andrieu, Nadine; Sinilnikova, Olga M.; Mitchell, Gillian; James, Paul A.; Thompson, Ella; Marchetti, Marina; Verzeroli, Cristina; Tartari, Carmen; Capone, Gabriele Lorenzo; Putignano, Anna Laura; Genuardi, Maurizio; Medici, Veronica; Marchi, Isabella; Federico, Massimo; Tognazzo, Silvia; Matricardi, Laura; Agata, Simona; Dolcetti, Riccardo; Puppa, Lara Della; Cini, Giulia; Gismondi, Viviana; Viassolo, Valeria; Perfumo, Chiara; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Peissel, Bernard; Roversi, Gaia; Silvestri, Valentina; Rizzolo, Piera; Spina, Francesca; Vivanet, Caterina; Tibiletti, Maria Grazia; Caligo, Maria Adelaide; Gambino, Gaetana; Tommasi, Stefania; Pilato, Brunella; Tondini, Carlo; Corna, Chiara; Bonanni, Bernardo; Barile, Monica; Osorio, Ana; Benitez, Javier; Balestrino, Luisa; Ottini, Laura; Manoukian, Siranoush; Pierotti, Marco A.; Renieri, Alessandra; Varesco, Liliana; Couch, Fergus J.; Wang, Xianshu; Devilee, Peter; Hilbers, Florentine S.; van Asperen, Christi J.; Viel, Alessandra; Montagna, Marco; Cortesi, Laura; Diez, Orland; BalmaÃ±a, Judith; Hauke, Jan; Schmutzler, Rita K.; Papi, Laura; Pujana, Miguel Angel; LÃ¡zaro, Conxi; Falanga, Anna; Offit, Kenneth; Vijai, Joseph; Campbell, Ian; Burwinkel, Barbara; Kvist, Anders; Ehrencrona, Hans; Mazoyer, Sylvie; Pizzamiglio, Sara; Verderio, Paolo; Surralles, Jordi; Rogan, Peter K.; Radice, Paolo

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

2015 - HUMAN MOLECULAR GENETICS

Henriques, A.; Croixmarie, V.; Priestman, D. A.; Rosenbohm, A.; Dirrig-Grosch, S.; D'Ambra, E.; Huebecker, M.; Hussain, G.; Boursier-Neyret, C.; Echaniz-Laguna, A.; Ludolph, A. C.; Platt, F. M.; Walther, B.; Spedding, M.; Loeffler, J. -P.; De Aguilar, J. -L. G.